Article
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
Human molecular genetics - 1 Oct 1998
Bayés M, Hartung A J, Ezer S, Pispa J, Thesleff I, Srivastava A K, Kere J
Abstract excerpt
Anhidrotic ectodermal dysplasia (EDA) is an X-linked recessive disorder which affects ectodermal structures. A cDNA encoding a 135 amino acid protein with mutations in 5-10% of EDA patients has been reported. We have built up a complete splicing map of the EDA gene and characterized the longest a...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Ectodermal Dysplasia
- Ectodysplasins
- Humans
- Membrane Proteins
- Mice
- Molecular Sequence Data
- Mutation
- Repetitive Sequences, Amino Acid
- Sequence Deletion
- Tissue Distribution
- Transcription, Genetic
- Transfection